Severe phosphoribosylpyrophosphate synthetase superactivity
MONDO:0018464Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
Also known as: severe PRPP synthetase superactivity, severe PRPS1 superactivity
1 clinical trial for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Inborn disorder of purine or pyrimidine metabolism
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Phosphoribosylpyrophosphate synthetase superactivity
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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